Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders

A relative haplotype dosage (RHDO)–based method was developed and implemented into routine clinical practice for noninvasive prenatal diagnosis (NIPD) of multiple single-gene disorders: spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and cystic fibrosis. This article describes the...

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Detalles Bibliográficos
Autores principales: Young, Elizabeth, Bowns, Benjamin, Gerrish, Amy, Parks, Michael, Court, Samantha, Clokie, Samuel, Mashayamombe-Wolfgarten, Chipo, Hewitt, Julie, Williams, Denise, Cole, Trevor, Allen, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Investigative Pathology 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471768/
https://www.ncbi.nlm.nih.gov/pubmed/32553884
http://dx.doi.org/10.1016/j.jmoldx.2020.06.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471768/
https://www.ncbi.nlm.nih.gov/pubmed/32553884
http://dx.doi.org/10.1016/j.jmoldx.2020.06.001

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